Fragile X Syndrome : Symptoms and Impact

Fragile X Syndrome1, abbreviated as FXS, is a genetic disorder caused due to a mutation on the X chromosome. A genetic disorder is a condition where the body faces issues or changes due to changes in the DNA sequence. A change that is different from what is normal to the body. These disorders are hereditary. Hence symptoms of the same may be present at birth or eventually develop. These genetic disorders could be chromosomal abnormalities, single genes, or multifactorial gene disorders2.

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History of Fragile X Syndrome

Fragile X Syndrome was first explained by Julia Bell and James Purdon Martin in 1943. They worked on a family case study that gave the first insights into the issue. They highlighted the symptom of intellectual disability3 and also showed that it caused due to some change in the X chromosome. Later in 1969, Herbert Lubs made further observations on the chromosome.

The syndrome was first named Martin-Bell Syndrome, named after the original discoverers. However, it got changed to Fragile X Syndrome, the name it is still carried out with.

A DNA test to detect the syndrome was found in 1991. Until today it is one of the best ways of detecting the syndrome. No other method can provide these accurate results.

What Causes Fragile X Syndrome?

A change in the FMR1 gene located on the X Chromosome, specifically at Xq27 in the body, causes Fragile X Syndrome. There are two types of sex chromosomes, X and Y. While men have XY and women have XX. So both males and females are vulnerable to this syndrome. However, males are more vulnerable than females. Two in every fourteen thousand men and 2 in every twenty-two thousand women are common.

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FMRP is essential in the production of protein. Its primary function is to behave as an RNA binding protein. The FMR1 has a DNA sequence of CGG which is repeated about 40 times in a normal human being’s gene. However, in Fragile X Syndrome, the sequence CGG is repeated more than 200 times, causing a defect. This hinders the proper production of protein in the body. The protein being produced is responsible for the proper functioning of the nervous system.

Symptoms of Fragile X Syndrome

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Fragile X Syndrome affects the child or individual in varied ways. It affects one physically and mentally and further affects their intelligence and behavior.

1. Physical Symptoms

  1. Prominent Large Jaw
  2. Very long and narrow face
  3. Large Ears
  4. Flat feet
  5. Flexible joints or double-jointed fingers
  6. Large Forehead
  7. Poor muscle tone
  8. In males, large testicles
  9. A very high-arched roof of the mouth.

2. Behavioral Symptoms

  1. Attention deficiency
  2. Hyperactivity
  3. Extremely shy
  4. Restless behavior, such as biting nails or fidgeting with something
  5. Unclear or delayed speech
  6. Delayed motor behavior
  7. Aggressive Behavior
  8. Self Destructive behavior
  9. Extreme Sensitivity (sensitive to loud sounds, taste, and smell)
  10. Might not be able to socialize effectively

3. Intelligence Symptoms

Fragile X Syndrome poses a lot of difficulty in learning.

  1. Poor Intelligent Quotient. Individuals have low IQ levels that degrade with age.
  2. Delay in reaching developmental milestones. A child has multiple essential milestones to achieve, but one might fail due to physical and behavioral limitations with this syndrome. Hence, the delayed speech and motor behaviors.
  3. Learning non-verbal communication is laborious. For example, they might not establish eye contact during communication.
  4. Difficulty in learning math
  5. Difficulty in learning languages. A visible symptom of it might be observed at the age of two when the child has to achieve the initial milestone of speech.
  6. There will be a delay or extreme difficulty in thinking, problem-solving, and social and emotional communication.

4. Mental Symptoms

Fragile X syndrome can be comorbid with several other mental health disorders. It is natural to occur as the child, given the social setting, is likely to feel left out, non-inclusive and different. The health conditions are such that it does take a toss on what the individual is feeling. Normal day activities become harder. They are usually dependent on others for most of their works, and a feeling of not being worthy enough might step in. As a natural result of such subjective experiences, one might develop the following, along with having the syndrome.

  1. Anxiety
  2. Depression
  3. Social Anxiety
  4. Obsessive-compulsive Behavior
  5. Borderline Personality Disorder

Other Medical Conditions that are Comorbid with the Syndrome

Having Fragile X Syndrome makes an individual vulnerable to other health conditions such as:

1. Epilepsy (Seizures)

A sudden burst of uncontrolled electrical activity in the brain causes temporary abnormalities in movements, behavior, and sensations. For example, stiffness of the body or twitching.

2. Ear infections

Individuals are more prone to ear infections due to the body’s condition.

3. Obesity

Obesity is the state of being significantly overweight due to genetic factors or environmental factors such as overeating, drinking excessively, medications, or stress and emotional factors.

4. Difficulty In Sleeping

Individuals with the syndrome find it hard to get enough amount of sleep.

Difference between Fragile X Syndrome and Autism

Having Fragile X Syndrome can increase the chances of having autism. However, autism can exist in itself. Autism, in general, also involves having social anxiety or social withdrawal, which is a common symptom seen in people with Fragile X Syndrome.

At What Age is Fragile X Syndrome Diagnosed?

Symptoms are visible in the child as early as 12 months. But on average, the doctors take 20 to 37 months to confirm a developmental delay and diagnose an individual with Fragile X Syndrome.

How is Fragile X Syndrome Diagnosed?

 1. Molecular Genetic Testing

Molecular genetic testing of the FMR1 gene will reveal the presence or absence of the disorder. It is advised to get this tested, as it will keep the parents aware of what has caused the intellectual and learning disabilities in the child.

It will also enable the family to take the necessary steps to handle, treat and manage the syndrome. Furthermore, it will help the family be aware of the potential carrier in the upcoming generation.

2. Genetic Counseling

Genetic counseling is advised so that the proper steps can be taken to treat the disorder appropriately. Genetic counseling is a session given to parents so that the parents are aware of the potential risks their child would face.

Be more proactive in taking genetic counseling if your family has a history of any genetic disorder.

Education for Children with Fragile X Syndrome.

Irrespective of any physical or mental health condition, it is necessary for all kids to be enrolled in a primary school. However, when we know that the child is suffering from issues, they must be exposed to very sensitive schooling. There are several special needs schools that work according to the need of the child.

Fragile X Syndrome
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Special need schools set up the right environment to boost the child’s development. Most parents are often worried about what the child will go through in a class setting, but it is essential to remember that these schools are crafted for kids who need different modes of education.

Special needs schools help the child get a quality education. Hence having disorders of any sort does not hinder the child’s education. Methods that are not used in regular schooling will be taught, giving them the right setting to acquire knowledge and build skills. Though the progress may be slow, it will set the right pace and provide them with the right place.

These schools help the child in their physical, emotional, intellectual, and social development. Several children with disabilities and disorders have grown and embraced themselves in these places. A special educator will be appointed who is trained to teach children with disabilities. The child must also simultaneously be exposed to psychologists or psychiatrists to provide professional counseling and guidance. The school will also focus on the child’s individual strengths so that the child may excel in their own ways. Several camps and activities are scheduled for the child that will help the child in their holistic development. Several children with disabilities and disorders have grown and embraced themselves in these places.

Environmental Adjustments to Support the Child

1. Avoid Crowded Places

It is essential to avoid crowds as much as possible. As mentioned earlier, social anxiety is one of the most common symptoms found. This might intimidate or trigger the child. However, slow exposure must be carried out so that the child is able to socialize well enough. This is what special needs schools will focus on too. These will conduct activities that will help the child feel inclusive and encourage the child to slowly communicate in a social setting, preparing them for the actual social setting outside.

2. Lighting and Noise

Have natural lighting and avoid loud noises. Children with not just this syndrome but any other disability or disorder are often sensitive in nature; one must be cautious of the environment they are exposed to. Sudden exposure to light or exposure to bright light and sudden loud noises must be consciously avoided as much as possible.

3. Use Visual Aids to Teach

During home learning, have more visual aids that will help them remember better. Always remember that visual learning is more impactful even with normal human beings. Being visual learners since the start of the stone age, through cave painting usage of signs and symbols for communication, we are well acquainted with this type of learning. Hence, using charts or color-coded images and many more similar methods will help the child in their journey of learning.

4. Focus on Child’s Interests

Figure out what interest the child. Use those elements more to enhance their learning. This might differ from child to child. Hence individual likeness must be given priority too. Special needs schools are well aware of these tactics. Hence they can provide the right learning setting.

5. Smaller Groups

Expose them to smaller groups. Take small steps at a time. Allow the child to be interactive, make friends, and build relationships as slowly as possible. Expose them to challenges, but at a slow pace.

It is always essential to constantly chat with the child’s tutor, psychologist, or psychiatrist n order to understand the child’s progress. Remember that the support of the parents is of utmost importance. These children need much more attention than any other child would do. Little extra efforts will make their life easier.

Treatment for Fragile X Syndrome

The syndrome cannot be cured completely, but the symptoms can be treated and controlled. The mode and method of treatment depend on the individual’s severity of the syndrome. The treatment is as follows:

1. Medications

According to the symptom, the medications given are

2. Therapy

Therapy can be used to treat specific learning and behavioral symptoms. The most prominent methods of therapy used are behavior therapy and cognitive therapy.

Behavioral therapy is a broad term that encapsulates most types of therapy. Still, the primary focus of this method includes focusing on unnecessary or unhealthy behaviors and slowly bringing in a change in them. This is often mixed with cognitive behavioral therapy, where the thoughts or the cognition of the person is focused on bringing about behavioral changes in the individual. This is used to treat several mental health disorders such as depression, anxiety, obsessive-compulsive disorders, and much more.

Speech and language therapy or occupational or physical therapies too are the common standards of treatment.

Affected individuals can be helped by occupational therapists so that mental health symptoms, mild intellectual disability, and severe symptoms of developmental delays4 can be improved by healthcare providers. The family members’ support is the first early intervention that can help reduce more severe symptoms.

3. Early Interventions

Early interventions are incredibly crucial as symptoms start becoming more prominent from ever since an early age. Therapies that help the child in their learnings and behaviors will help the child reduce the symptoms.

The community resources must be utilized so that behavior problems are minimized. This can lead to milder symptoms and lesser health problems, but unfortunately, Fragile X Syndrome is permanent but can be made less difficult for them if the right steps are taken at the earliest.

  1. Hagerman, Randi J., et al. “Fragile X syndrome.” Nature reviews Disease primers 3.1 (2017): 1-19. ↩︎
  2. Patil, Shankargouda, Roopa S. Rao, and Barnali Majumdar. “Chromosomal and multifactorial genetic disorders with oral manifestations.” Journal of international oral health: JIOH 6.5 (2014): 118. ↩︎
  3. Kellett, Stephen, et al. “The factor structure of the Brief Symptom Inventory: Intellectual disability evidence.” Clinical Psychology & Psychotherapy: An International Journal of Theory & Practice 11.4 (2004): 275-281. ↩︎
  4. Petersen, Mario C., David A. Kube, and Frederick B. Palmer. “Classification of developmental delays.” Seminars in pediatric neurology. Vol. 5. No. 1. WB Saunders, 1998. ↩︎

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R Shishma Jeevitha

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